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Porphyrias
scientific article published on 01 March 2010
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1 reference
stated in
Europe PubMed Central
PubMed publication ID
20226990
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20226990%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 January 2020
review article
1 reference
stated in
Europe PubMed Central
title
Porphyrias
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
20226990
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20226990%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 January 2020
author
Laurent Gouya
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
20226990
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20226990%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 January 2020
author name string
Hervé Puy
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
20226990
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20226990%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 January 2020
Jean-Charles Deybach
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
20226990
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20226990%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 January 2020
language of work or name
English
0 references
publication date
1 March 2010
1 reference
stated in
Europe PubMed Central
PubMed publication ID
20226990
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20226990%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 January 2020
published in
The Lancet
1 reference
stated in
Europe PubMed Central
PubMed publication ID
20226990
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20226990%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 January 2020
volume
375
1 reference
stated in
Europe PubMed Central
PubMed publication ID
20226990
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20226990%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 January 2020
issue
9718
1 reference
stated in
Europe PubMed Central
PubMed publication ID
20226990
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20226990%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 January 2020
page(s)
924-937
1 reference
stated in
Europe PubMed Central
PubMed publication ID
20226990
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20226990%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 January 2020
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A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria
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Acute intermittent porphyria in women: clinical expression, use and experience of exogenous sex hormones. A population-based study in northern Sweden
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The little imitator--porphyria: a neuropsychiatric disorder
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An analysis of 112 acute porphyric attacks in Cape Town, South Africa: Evidence that acute intermittent porphyria and variegate porphyria differ in susceptibility and severity
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Urine and faecal porphyrin profiles by reversed-phase high-performance liquid chromatography in the porphyrias
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7 January 2021
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Estimation and application of biological variation of urinary delta-aminolevulinic acid and porphobilinogen in healthy individuals and in patients with acute intermittent porphyria
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7 January 2021
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Plasma fluorescence scanning and fecal porphyrin analysis for the diagnosis of variegate porphyria: precise determination of sensitivity and specificity with detection of protoporphyrinogen oxidase mutations as a reference standard
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Variegate porphyria: diagnostic value of fluorometric scanning of plasma porphyrins
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Hereditary coproporphyria in Germany: clinical-biochemical studies in 53 patients
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7 January 2021
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Biochemical differentiation of the porphyrias.
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7 January 2021
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Hereditary coproporphyria: comparison of molecular and biochemical investigations in a large family.
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7 January 2021
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Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria
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7 January 2021
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Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update
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7 January 2021
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Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation
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7 January 2021
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Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria
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7 January 2021
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Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase
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https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
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7 January 2021
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Diagnostic strategies for autosomal dominant acute porphyrias: retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX, or PPOX gene.
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7 January 2021
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Acute porphyrias: pathogenesis of neurological manifestations
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Experimental Porphyric Neuropathy: A Preliminary Report
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7 January 2021
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Liver transplantation as a cure for acute intermittent porphyria
1 reference
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Crossref
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7 January 2021
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Identification of the xenosensors regulating human 5-aminolevulinate synthase
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7 January 2021
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Smoking and recurrent attacks of acute intermittent porphyria
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Nutritional regulation of hepatic heme biosynthesis and porphyria through PGC-1alpha
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Peroxisome proliferator-activated receptor alpha controls hepatic heme biosynthesis through ALAS1.
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Role of two nutritional hepatic markers (insulin-like growth factor 1 and transthyretin) in the clinical assessment and follow-up of acute intermittent porphyria patients
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Recommendations for the diagnosis and treatment of the acute porphyrias
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Physicochemical properties, pharmacokinetics, and pharmacodynamics of intravenous hematin: a literature review
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7 January 2021
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Reconstitution of hematin for intravenous infusion
1 reference
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Crossref
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7 January 2021
based on heuristic
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Treatment of an acute attack of porphyria during pregnancy
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
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7 January 2021
based on heuristic
inferred from DOI database lookup
Can pregnancy stop cyclical attacks of porphyria?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Liver transplantation for porphyria: who, when, and how?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Alcohol and porphyrin metabolism
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
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7 January 2021
based on heuristic
inferred from DOI database lookup
Guide to drug porphyrogenicity prediction and drug prescription in the acute porphyrias
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
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7 January 2021
based on heuristic
inferred from DOI database lookup
Hypertension and renal disease in patients with acute intermittent porphyria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Acute hepatic porphyria and hepatocellular carcinoma
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hepatocellular carcinoma in patients with acute hepatic porphyria: frequency of occurrence and related factors.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Acute hepatic porphyrias and primary liver cancer
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The epidemiology of hepatocellular carcinoma in patients with acute intermittent porphyria.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The cutaneous porphyrias: a review. The British Photodermatology Group
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Ocular complications in 2 cases with porphyria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Skin morphology in porphyria cutanea tarda does not improve despite clinical remission
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Skin changes in variegate porphyria. Clinical, histopathological, and ultrastructural study
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Histologic and immunofluorescence study of cutaneous porphyrias.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Porphyria cutanea tarda
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of a group of tetracarboxylate porphyrins, containing one acetate and three propionate -substituents, in faeces from patients with symptomatic cutaneous hepatic porphyria and from rats with porphyria due to hexachlorobenzene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Familial and sporadic porphyria cutanea: two different diseases.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Decreased activity of hepatic uroporphyrinogen decarboxylase in sporadic porphyria cutanea tarda
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Prevalence of hepatitis C virus infection in porphyria cutanea tarda: systematic review and meta-analysis.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hepatitis C virus and porphyria cutanea tarda: evidence of a strong association
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The frequency of hemochromatosis-associated alleles is increased in British patients with sporadic porphyria cutanea tarda
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hemochromatosis genotypes and risk of 31 disease endpoints: meta-analyses including 66,000 cases and 226,000 controls
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Down-regulation of hepcidin in porphyria cutanea tarda
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A porphomethene inhibitor of uroporphyrinogen decarboxylase causes porphyria cutanea tarda
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hepatocellular carcinoma risk in patients with porphyria cutanea tarda
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Management of porphyria cutanea tarda in the setting of chronic renal failure: a case report and review
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Dermatologic conditions seen in end-stage renal disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Porphyria, pseudoporphyria, pseudopseudoporphyria...?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The management of porphyria cutanea tarda
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Diagnosis and treatment of the hepatic porphyrias
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Effects of chloroquine in hematoporphyrin-treated animals
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Low-dose oral chloroquine in patients with porphyria cutanea tarda and low-moderate iron overload
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Erythropoietin for the treatment of porphyria cutanea tarda in a patient on long-term hemodialysis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Diagnosis and management of the erythropoietic porphyrias
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Increased plasma transferrin, altered body iron distribution, and microcytic hypochromic anemia in ferrochelatase-deficient mice
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hepatobiliary implications and complications in protoporphyria, a 20-year study
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Acquired erythropoietic protoporphyria as a result of myelodysplasia causing loss of chromosome 18
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Photosensitivity and acute liver injury in myeloproliferative disorder secondary to late-onset protoporphyria caused by deletion of a ferrochelatase gene in hematopoietic cells
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Erythropoietic protoporphyria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An alpha-melanocyte-stimulating hormone analogue in erythropoietic protoporphyria.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Liver disease in erythropoietic protoporphyria: insights and implications for management
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Liver transplantation for erythropoietic protoporphyria liver disease.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Protection from phototoxic injury during surgery and endoscopy in erythropoietic protoporphyria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sequential liver and bone marrow transplantation for treatment of erythropoietic protoporphyria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Congenital erythropoietic porphyria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular genetics of congenital erythropoietic porphyria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Congenital erythropoietic porphyria associated with myelodysplasia presenting in a 72-year-old man: report of a case and review of the literature
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Treatment of severe congenital erythropoietic porphyria by bone marrow transplantation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Treatment of congenital erythropoietic porphyria in children by allogeneic stem cell transplantation: a case report and review of the literature
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Congenital erythropoietic porphyria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Effective gene therapy of mice with congenital erythropoietic porphyria is facilitated by a survival advantage of corrected erythroid cells
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Uroporphyrinogen decarboxylase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Homozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin precursors
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Homozygous variegate porphyria: identification of mutations on both alleles of the protoporphyrinogen oxidase gene in a severely affected proband
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular characterization of homozygous variegate porphyria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Homozygous variegate porphyria: 20 y follow-up and characterization of molecular defect
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
ALAD porphyria is a conformational disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The third case of Doss porphyria (delta-amino-levulinic acid dehydratase deficiency) in Germany
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hereditary tyrosinemia and the heme biosynthetic pathway. Profound inhibition of delta-aminolevulinic acid dehydratase activity by succinylacetone
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961925-5
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0140-6736(09)61925-5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
20226990
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20226990%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 January 2020
PubMed publication ID
20226990
1 reference
stated in
Europe PubMed Central
PubMed publication ID
20226990
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20226990%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 January 2020
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